Orotic Aciduria (ORAC1)

Orotic Aciduria(来自ICD-11)

别称:

Orotate Phosphoribosyltransferase and Orotidylic Decarboxylase Deficiency

Orotidylic Pyrophosphorylase and Orotidylic Decarboxylase Deficiency

Uridine Monophosphate Synthase Deficiency

Hereditary Orotic Aciduria, Type 1

Oprt and Odc Deficiency

Ump Synthase Deficiency

Orotic Aciduria I

Umps Deficiency

Hereditary Orotic Aciduria

Orotic Aciduria Ii

Orotic Aciduria 1

Oroticaciduria 1

Aciduria, Orotic

Oroticaciduria

Orac1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Orotic Aciduria, also known as orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency, is related to hereditary orotic aciduria and lysinuric protein intolerance. An important gene associated with Orotic Aciduria is UMPS (Uridine Monophosphate Synthetase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include bone marrow and bone, and related phenotypes are failure to thrive and global developmental delay

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